Details for Gene HMCN1

GENE NAME HMCN1
CHROMOSOME 1
ENSEMBL ID None
ENTREZ ID ENSG00000143341
UNIPROT ACCESSION NUMBER Q96RW7
GO MOLECULAR FUNCTION ['extracellular matrix structural constituent', 'calcium ion binding', 'protein binding']
ESSENTIAL IN MOUSE None
PATHWAYS
1 combination linked to HMCN1 OLI1333
2 variants linked to HMCN1 HMCN1:c.109G>A, ; HMCN1:c.4586A>G,
1 disease linked to HMCN1 Primary immunodeficiency

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